Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …
Mendelian disease but is now increasingly recognized as having a complex genetic …
Towards precision medicine in heart failure
The number of therapies for heart failure (HF) with reduced ejection fraction has nearly
doubled in the past decade. In addition, new therapies for HF caused by hypertrophic and …
doubled in the past decade. In addition, new therapies for HF caused by hypertrophic and …
Linear and nonlinear Mendelian randomization analyses of the association between diastolic blood pressure and cardiovascular events: the J-curve revisited
Background: Recent clinical guidelines support intensive blood pressure treatment targets.
However, observational data suggest that excessive diastolic blood pressure (DBP) …
However, observational data suggest that excessive diastolic blood pressure (DBP) …
An atlas of gene regulatory elements in adult mouse cerebrum
The mammalian cerebrum performs high-level sensory perception, motor control and
cognitive functions through highly specialized cortical and subcortical structures. Recent …
cognitive functions through highly specialized cortical and subcortical structures. Recent …
Cardiac cell type–specific gene regulatory programs and disease risk association
Misregulated gene expression in human hearts can result in cardiovascular diseases that
are leading causes of mortality worldwide. However, the limited information on the genomic …
are leading causes of mortality worldwide. However, the limited information on the genomic …
Functional dynamic genetic effects on gene regulation are specific to particular cell types and environmental conditions
AS Findley, A Monziani, AL Richards, K Rhodes… - Elife, 2021 - elifesciences.org
Genetic effects on gene expression and splicing can be modulated by cellular and
environmental factors; yet interactions between genotypes, cell type, and treatment have not …
environmental factors; yet interactions between genotypes, cell type, and treatment have not …
Assessing the role of rare genetic variation in patients with heart failure
Importance Sequencing studies have identified causal genetic variants for distinct subtypes
of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role of …
of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role of …
Single-cell sequencing reveals lineage-specific dynamic genetic regulation of gene expression during human cardiomyocyte differentiation
Dynamic and temporally specific gene regulatory changes may underlie unexplained
genetic associations with complex disease. During a dynamic process such as cellular …
genetic associations with complex disease. During a dynamic process such as cellular …
Genetic architecture of heart failure with preserved versus reduced ejection fraction
Pharmacologic clinical trials for heart failure with preserved ejection fraction have been
largely unsuccessful as compared to those for heart failure with reduced ejection fraction …
largely unsuccessful as compared to those for heart failure with reduced ejection fraction …
Functional genomics in stroke: current and future applications of iPSCs and gene editing to dissect the function of risk variants
A Granata - BMC cardiovascular disorders, 2023 - Springer
Stroke is an important disease with unmet clinical need. To uncover novel paths for
treatment, it is of critical importance to develop relevant laboratory models that may help to …
treatment, it is of critical importance to develop relevant laboratory models that may help to …